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Diabetes Insipidus

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发表于 9-3-2022 11:42:10 | 显示全部楼层 |阅读模式
Lisa Sanders, Weight Watchers. The 5-month-old hadn't gained any weight in three months. Why was he 'failing to thrive'?  New York Times Magazine, Sept 4, 2022 (the magazine is published every Sunday, and Sept 4 is tomorrow, but the magazine is available today in Cambridge Public Library).
https://www.nytimes.com/2022/09/ ... idus-diagnosis.html
https://bigindynews.com/lifestyl ... what-was-the-cause/

Note:
(a) Back in Taiwan where American textbooks were and are the norm in colleges, I could not understand what the term "fail to thrive" meant. Now I know.
(i) Failure to Thrive. Children's Hospital of Philadelphia (CHOP), undated
https://www.chop.edu/conditions-diseases/failure-thrive
("Failure to thrive is defined as decelerated or arrested physical growth (height and weight measurements fall below the third or fifth percentile, or a downward change in growth across two major growth percentiles) and is associated with abnormal growth and development. The reason for failure to thrive is inadequate nutrition")
https://www.ncbi.nlm.nih.gov/books/NBK470458/
(ii) Children's Hospital of Philadelphia
https://en.wikipedia.org/wiki/Ch ... tal_of_Philadelphia
(table: Funding  Non-profit hospital [with its own board of trustees]; has been ranked as the best children's hospital in the United States by US News & World Report; The hospital is located next to the University of Pennsylvania and its physicians serve as the pediatrics department of the Perelman School of Medicine at the University of Pennsylvania; section 1 History: the first children's hospital in North America)

(b) "The couple sat in silence as they drove home from Blank Children’s Hospital in Des Moines."
(i) There will be two Blank hospitals for childrens, one is in Des Moines, and the other WILL be in Atlanta.
(A) The first one already in existence (in Des moines) is named after AH Blank. See Abraham Harry Blank
https://en.wikipedia.org/wiki/Abraham_Harry_Blank

History. Blank Children Hospital
https://www.unitypoint.org/blankchildrens/history.aspx
is in in UnityPoint Health
https://en.wikipedia.org/wiki/UnityPoint_Health
(B) The future one will be named after Arthur M Blank
https://en.wikipedia.org/wiki/Arthur_Blank
(born in 1942 in New York City; co-founder of Atlanta-based Home Depot)
(C) The surname Blank has two origins:
"German And Dutch: Nickname for a man with white or fair hair or a pale complexion from Middle Low German and Middle High German blanc bright shining white beautiful [or] Middle Dutch blank fair white.
Jewish (Ashkenazic): From [Modern] German blank bright shiny." Dictionary of American Family Names.
(D) blank
https://en.wiktionary.org/wiki/blank
(• English adjective: from Old French adjective masculine blanc (feminine blanche): "1:  (archaic) white or pale"
• German adjective masculine)
(ii) "Des Moines (/dəˈmɔɪn/ ) is the capital and the most populous city" in Iowa, and named for Des Moines River
https://en.wikipedia.org/wiki/Des_Moines_River
(section 2 History: "The name may have referred to early Trappist ['They are named after La Trappe Abbey, the monastery from which the movement and religious order originated'] monks who built huts near the mouth of the river at the Mississippi [citation needed]")


(c) "The baby had worrisome abnormalities in his blood chemistry. The salt [actually sodium; chloride is not something we are concerned any time] level in his blood was very high * * * The child's sodium level was 159, more than 10 points above normal. * * * Problems with [lacking or not responding to]  vasopressin can cause a disorder first described in the 18th century as diabetes insipidus"
(i) diabetes insipidus
https://en.wikipedia.org/wiki/Diabetes_insipidus   
(section 6 Etymology)
(ii) Giovanna Valenti and Grazia Tamma, History of Diabetes Insipidus. Giornale Italiano di Nefrologia (English: Italian Journal of Nephrology), _: _ (2016)
https://pubmed.ncbi.nlm.nih.gov/26913870/
("With respect to the similarly named Diabetes Mellitus [糖尿病; patient's urine tastes sweet, from sugars excreted by kidneys due to high blood sugar that body somehow refuses to use], a disease already known in ancient Egypt, Greece and Asia, Diabetes Insipidus has been described several thousand years later. In 1670s Thomas Willis, noted the difference in taste of urine from polyuric subjects compared with healthy individuals and started the differentiation of Diabetes Mellitus from the more rare entity of Diabetes Insipidus. In 1794, Johann Peter Frank described polyuric patients excreting nonsaccharine urine and introduced the term of Diabetes Insipidus")
(A) Thomas Willis
https://en.wikipedia.org/wiki/Thomas_Willis   
(English)
(B) Johann Peter Frank
https://en.wikipedia.org/wiki/Johann_Peter_Frank
(German)


(d) "The child’s combination of high [blood, not urine] sodium and watery, dilute urine immediately made the doctors suspect he had DI. His high sodium level should have made his brain send a vasopressin message [actually hormone] to his kidneys to hold on to all the water they could. And yet his urine was almost all water. Why? Was the pituitary gland in his brain unable to make the hormone? Or was there a problem on the message-receiving end in his kidneys?  No matter where the problem started, there were medications that could help. The doctors put the baby on two drugs usually used to control high blood pressure, which trigger the kidneys to dump sodium. Almost immediately, the baby’s sodium began to drop. That suggested that the baby did have DI. If so, was the problem in the brain, where the hormone was made, or the kidneys? How the problem was treated depended on where it originated. * * * Only then did they get the results of the genetic testing, confirming what they already knew: The baby had DI."
(i) Channing Hui, Myra Khan and Jared M. Radbel, Diabetes Insipidus. StatPearls, last Update June 11, 2022
https://www.ncbi.nlm.nih.gov/books/NBK470458/
("The congenital form of nephrogenic diabetes insipidus is associated with mutations in either the AVPR2 or AQP2 gene. AVPR2 receptor defects are the source of 90% of congenital nephrogenic diabetes insipidus")

In humans, the AVPR2 GENE is in X chromosome, and AQP2 in chromosome 12. A mutated copy in AVPR2 gene causes DI in a male (who has a single copy of X chromosome).
(ii) The article does not say what is the cause of his DI, but "the results of the genetic testing" says it all, because pituitary cause of DI is not inherited.
(iii) Also known as anti-diuretic hormone (ADH), vasopressin is made up of eight amino acids.
(iv) AVPR2 stands for arginine vasopressin receptor 2 (one of the three receptors for vasopressin). AVPR2 PROTEIN is a G protein-coupled receptor (if you are not a biologist, you need not comprehend this terminology) and is located in distal convoluted tubule of a nephron in kidney. Distal convoluted tubule reabsorbs water.
(v) Treatment of nephrogenic DI is with diuretics. The quotation in (d) suggests as much: "The doctors put the baby on two drugs usually used to control high blood pressure, which trigger the kidneys to dump sodium." Usually the diuretic used in the treatment is hydrochlorothiazide
https://en.wikipedia.org/wiki/Hydrochlorothiazide
(section 3 Mechanism of action)
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